What is PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY (PNP)?

rare autosomal recessive mutation in the PNP gene

Gibt es eine deutsche Bezeichnung?

PNP [Purinnukleosid-Phosphorylase]-Mangel

Disease	PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY (PNP)
Synonym	NUCLEOSIDE PHOSPHORYLASE; IMMUNODEFICIENCY
OMIM	613179 OMIM = Online Mendelian Inheritance of Men
Orphanet	760
Protein (UniProt)	purine nucleoside phosphorylase
ExPASy	2.4.2.1
Gene locus	14q13.1
ICD	D81.5
Summary	rare autosomal recessive mutation in the PNP gene
Laboratory findings	Uric acid dec (serum) 2-Deoxyguanosine inc (urine) 2-Deoxyuridine inc (urine) Guanosine inc (serum) Guanosine inc (urine) Inosine inc (urine) Inosine inc (serum) Nucleoside phosphorylase dec (fibroblasts) Nucleoside phosphorylase dec (erythrocytes) Orotic acid normal/inc (urine) Uric acid dec (urine)
Symptoms	anemia ataxia behavior, abnormal or bizarre, confusion developmental delay failure to thrive hypertonia, spasticity hypotonia infections (severe or recurrent) infections (urinary tract) lymphopenia mental retardation neutropenia (decreased neutrophils) onset, childhood onset, infancy onset, neonatal pneumonia spastic diplegia/quadriplegia/tetraplegia splenomegaly (large spleen) strokelike episodes tremor or twitching